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Sarah Wiethoff

Showing results (51-60 of 62) with videos related to

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American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Brain : a Journal of Neurology|September 11, 2019
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelinationStephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
Brain : a Journal of Neurology|July 9, 2020
The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findingsRoss W Paterson, Rachel L Brown, Laura Benjamin, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Genetics|May 27, 2017
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Brain : a Journal of Neurology|September 11, 2019
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelinationStephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
Brain : a Journal of Neurology|July 9, 2020
The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findingsRoss W Paterson, Rachel L Brown, Laura Benjamin, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Genetics|May 27, 2017
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 7